Monday, August 23, 2010

Pennies from heaven

Great news!
I took Tomas to his GI this morning and we talked about everything that happened with the last hospital stay and the hypoglycemia. Without any prompting from me he said it sounds like we need to test for a metabolic disorder. He said that just because Tomas has Down syndrome doesn't mean he can't have anything else, and that rare doesn't mean nonexistent. He said Tomas has too many symptoms to ignore, and it needs to be checked out. He said that all the data gathered at the hospital, and from previous tests, does not fit neatly into a dumping syndrome diagnosis. He said that it would be more rare for Tomas to have something causing neutropenia, something else causing hypoglycemia, something else causing his platelet dysfunction, and that if a child has been given that many different diagnosis then it is usually because the doctor is wrong. He even said that a metabolic disorder could have caused Tomas' gallstone. He said he needed to do some research and check his books so that he ordered the right tests. He told me to absolutely forget about the medication that the doctors sent home from the hospital and to leave Tomas on continuous feeds until we find out for sure what is going on. He said that the blood in his stomach could be from a clotting disorder that comes from the platelet dysfunction which comes from - you guessed it - a metabolic disorder. What it boils down to is that it is just time to take a look and see what we can see. Have I mentioned I love this doctor. He is the one who called from vacation when Tomas was having the blood sugar lows before he was admitted to the hospital. He said way back then that he didn't think it was dumping syndrome.
I was on cloud nine leaving his office. I was actually giddy with joy that someone was listening. That someone else wanted reasonable, logical answers. I tell you it was a high I have not felt in a long time.
Now you must all pray for me because I want to do something very much of this world. I so want to prove the other doctor - the national hypoglycemic expert - wrong. He is the one who told me that something went wrong with the first fasting study - he didn't know what - but something. His partner is the one who told me that metabolic disorders were not consistent with DS, and that testing for them would be looking outside of the DS diagnosis. They are bad feelings and very strong in me right now, and I pray that I can pray them away.
For the first time since May (when that nonspecific, interesting, atypical rash showed up) I feel like we are on the road to finding out what is wrong.
Now for another God's ways are not our ways: I was forced into this GI practice when our old GI office dropped our insurance last September. I blogged then that I knew it was a God thing but was still irritated that I had to find 9 specialists to replace all the ones we lost. Here I am almost a year later and the veil is lifted and the cloud has cleared. Tomas was meant to be at this practice, at this moment, for this reason. When will I ever learn????????

Happy for your giddiness and praying for Tomas, as you begin this road to finding answers.Feels as if you can breathe a bit when you feel your are in the hands of someone who cares.Much like God,isn't it?

wow, great when God leads you places. I will pray for your son and your family to get the answers you need. It's a great thing and hard to find a dr.who really wants to help. Hope you get answers you need :)

All about Tomas

When I was around 5 months pregnant an ultrasound revealed a birth defect (duodenal atresia - a blockage between the intestines and stomach) in Tomas which also meant he had a high chance of being a Down Syndrome baby. About a month before he was born I had an amnio that showed he did indeed have DS. He was born on January 16, 2009 and had his first surgery when he was 32 hours old. After that, test result after test result rolled in. In the first month my family learned he had three holes in his heart, his liver was not working, and he had Transient Myeloproliferative disorder (a type of leukemia which resolves in the first few months of life). The second month revealed laryngomalacia (a collapsing larynx), primary and secondary aspiration, and severe reflux. He was switched to tube feedings and had his second surgery to correct the reflux that was causing him to suffocate. The TMD resolved when he was 4 months old, his liver started working when he was 5 months old, and the holes in his heart have closed without intervention. After that we found out his left lung is partially collapsed, he has a stomach hernia and a liver hernia and multiple bowel hernias, and was recently diagnosed with neutropenia. He had another 2 surgeries. He is on J-tube feedings, requires oxygen support, needs to be on a pulse oximeter monitor, and has 10 specialists who follow him. He is exactly what I never knew I wanted. He has taken our family and carried all of us to a place where every smile matters, where the days breathe with possibilities, and joy reigns supreme.

"The real choice in accepting or rejecting a child with special needs is never between some imaginary perfection or imperfection. The
real choice is between love and unlove, between courage and cowardice, between trust and fear. And that’s the choice we face as a society in deciding which human lives we will treat as valuable, and which we will not. "